A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5939161



Internal ID22714550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7107757..7108079hg38UCSC Ensembl
chr18:7107756..7108078hg19UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17390619
Samples
Known GenesLAMA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5939161
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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